NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter) AND Kabuki syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000659795.1
Allele description [Variation Report for NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter)]
NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter)
Condition(s)
Assertion and evidence details
Last Updated: Aug 23, 2022